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CCBE1 (collagen and calcium binding EGF domains 1)

Identity

Other names-
HGNC (Hugo) CCBE1
LocusID (NCBI) 147372
Location 18q21.32
Location_base_pair Starts at 57098171 and ends at 57364644 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)CCBE1   29426
Cards
Entrez_Gene (NCBI)CCBE1  147372  collagen and calcium binding EGF domains 1
GeneCards (Weizmann)CCBE1
Ensembl hg19 (Hinxton)ENSG00000183287 [Gene_View]  chr18:57098171-57364644 [Contig_View]  CCBE1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000183287 [Gene_View]  chr18:57098171-57364644 [Contig_View]  CCBE1 [Vega]
ICGC DataPortalENSG00000183287
cBioPortalCCBE1
AceView (NCBI)CCBE1
Genatlas (Paris)CCBE1
WikiGenes147372
SOURCE (Princeton)CCBE1
Genomic and cartography
GoldenPath hg19 (UCSC)CCBE1  -     chr18:57098171-57364644 -  18q21.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CCBE1  -     18q21.32   [Description]    (hg38-Dec_2013)
EnsemblCCBE1 - 18q21.32 [CytoView hg19]  CCBE1 - 18q21.32 [CytoView hg38]
Mapping of homologs : NCBICCBE1 [Mapview hg19]  CCBE1 [Mapview hg38]
OMIM235510   612753   
Gene and transcription
Genbank (Entrez)AB075863 AF087966 AK055243 AY358347 BC046645
RefSeq transcript (Entrez)NM_133459
RefSeq genomic (Entrez)AC_000150 NC_000018 NC_018929 NG_016990 NT_010966 NW_001838469 NW_004929411
Consensus coding sequences : CCDS (NCBI)CCBE1
Cluster EST : UnigeneHs.34333 [ NCBI ]
CGAP (NCI)Hs.34333
Alternative Splicing : Fast-db (Paris)GSHG0014335
Alternative Splicing GalleryENSG00000183287
Gene ExpressionCCBE1 [ NCBI-GEO ]     CCBE1 [ SEEK ]   CCBE1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UXH8 (Uniprot)
NextProtQ6UXH8  [Medical]
With graphics : InterProQ6UXH8
Splice isoforms : SwissVarQ6UXH8 (Swissvar)
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)   
Domains : Interpro (EBI)Collagen    EG-like_dom    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS   
Related proteins : CluSTrQ6UXH8
Domain families : Pfam (Sanger)Collagen (PF01391)    EGF_CA (PF07645)   
Domain families : Pfam (NCBI)pfam01391    pfam07645   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
DMDM Disease mutations147372
Blocks (Seattle)Q6UXH8
Human Protein AtlasENSG00000183287
Peptide AtlasQ6UXH8
HPRD08703
IPIIPI00152815   IPI00830026   IPI00830123   
Protein Interaction databases
DIP (DOE-UCLA)Q6UXH8
IntAct (EBI)Q6UXH8
FunCoupENSG00000183287
BioGRIDCCBE1
IntegromeDBCCBE1
STRING (EMBL)CCBE1
Ontologies - Pathways
QuickGOQ6UXH8
Ontology : AmiGOlymphangiogenesis  lymphangiogenesis  protease binding  sprouting angiogenesis  calcium ion binding  collagen binding  collagen trimer  extracellular space  positive regulation vascular endothelial growth factor production  positive regulation of endothelial cell migration  positive regulation of protein processing  extracellular matrix  venous blood vessel morphogenesis  positive regulation of vascular endothelial growth factor signaling pathway  
Ontology : EGO-EBIlymphangiogenesis  lymphangiogenesis  protease binding  sprouting angiogenesis  calcium ion binding  collagen binding  collagen trimer  extracellular space  positive regulation vascular endothelial growth factor production  positive regulation of endothelial cell migration  positive regulation of protein processing  extracellular matrix  venous blood vessel morphogenesis  positive regulation of vascular endothelial growth factor signaling pathway  
Protein Interaction DatabaseCCBE1
DoCM (Curated mutations)CCBE1
Wikipedia pathwaysCCBE1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCCBE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCBE1
dbVarCCBE1
ClinVarCCBE1
1000_GenomesCCBE1 
Exome Variant ServerCCBE1
SNP (GeneSNP Utah)CCBE1
SNP : HGBaseCCBE1
Genetic variants : HAPMAPCCBE1
Genomic VariantsCCBE1  CCBE1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000183287 
Somatic Mutations in Cancer : COSMICCCBE1 
CONAN: Copy Number AnalysisCCBE1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Vascular Anomaly and Lymphedema Mutation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)18:57098171-57364644
Mutations and Diseases : HGMDCCBE1
OMIM235510    612753   
MedgenCCBE1
NextProtQ6UXH8 [Medical]
GENETestsCCBE1
Disease Genetic AssociationCCBE1
Huge Navigator CCBE1 [HugePedia]  CCBE1 [HugeCancerGEM]
snp3D : Map Gene to Disease147372
DGIdb (Drug Gene Interaction db)CCBE1
General knowledge
Homologs : HomoloGeneCCBE1
Homology/Alignments : Family Browser (UCSC)CCBE1
Phylogenetic Trees/Animal Genes : TreeFamCCBE1
Chemical/Protein Interactions : CTD147372
Chemical/Pharm GKB GenePA134880094
Clinical trialCCBE1
Cancer Resource (Charite)ENSG00000183287
Other databases
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
CoreMineCCBE1
GoPubMedCCBE1
iHOPCCBE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:38:44 CET 2014

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